KCNMA1 Chromosome 10

Potassium calcium-activated channel subfamily M alpha 1
112 variants 112 Health Risk

Upload your DNA to see your personal genotypes for variants in KCNMA1.

What This Gene Does
This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000156113
Associated Conditions (14)
Generalized epilepsy-paroxysmal dyskinesia syndrome
KCNMA1-related disorder
Cerebellar atrophy
developmental delay
and seizures
Epilepsy
idiopathic generalized
susceptibility to
16
Liang-Wang syndrome
Inborn genetic diseases
Infantile epileptic dyskinetic encephalopathy
Intellectual disability
Autism spectrum disorder
Key Variants
RS1043608536
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS115273369
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1350886458
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS139309224
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS142210216
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143562140
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143599540
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS144215383
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1445232499
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS145048715
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147369374
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147378590
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
All Variants (112)
RSID Category Clinical Significance Conditions
RS1043608536 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS115273369 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1350886458 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS139309224 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS142210216 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS143562140 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS143599540 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS144215383 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1445232499 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS145048715 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS147369374 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS147378590 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1484259264 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Cerebellar atrophy, developmental delay
RS149647577 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1554841751 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1564596167 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1591664697 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS188354139 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, developmental delay, and seizures
RS199572145 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS199818612 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200045097 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200166976 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200167721 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200196183 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200321180 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200440843 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200474297 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200714367 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200741233 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201397661 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201919794 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201924445 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201999021 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS202124080 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS202161397 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2092522027 Health Risk Conflicting classifications of pathogenicity Liang-Wang syndrome, Liang-Wang syndrome
RS2093898757 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2096371289 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2229008 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2551803002 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS367642241 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS368568833 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS370838557 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS370862113 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS373648078 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS373677230 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Cerebellar atrophy, developmental delay
RS377596790 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS41281550 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS549360933 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS558650814 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome, Cerebellar atrophy
1 2 3 Next »
Sign Up to Analyze Your DNA Log In